WebWe report a multiple congenital anomalies (MCA) syndrome in three unrelated fetuses consisting of extremely thin, dense, fishbone-like diaphyses, flared metaphyses, mild micromelic dwarfism, brachydactyly, facial dysmorphism, ocular malformations (microphthalmia, aniridia), cloverleaf skull deformity, and splenic hypoplasia. WebDec 8, 2024 · Characteristic features include supraorbital hyperostosis, cranial hyperostosis, undermodeling of the small bones, flared metaphyses, and digital anomalies. Extra-skeletal manifestations include hearing loss, cardiac malformations, and stenosis, particularly of the upper airway and urinary tract. FMD2 inheritance is autosomal dominant.
Metaphysis - Wikipedia
WebFeb 5, 2014 · Head. - Disproportionately large head. - Delayed closure of fontanel. - Large fontanels. - Microcephaly (in some patients) Web— Type I: short long bones, short ribs causing small thorax and pulmonary hypoplasia, platyspondyly, flat acetabular roof, long bone bowing with cupped flared metaphyses – “telephone receiver” femora and humeri, no cloverleaf skull … flowering lespedez
Craniometaphyseal dysplasia: Report of 2 cases with an
WebJul 1, 2024 · Spondyloepimetaphyseal dysplasias (SEMDs) are autosomal dominant skeletal dysplasias characterized by mild epiphyseal dysplasia, flared metaphyses, prominent joints, spondyler dysplasia, and brachydactyly with various carpal, metacarpal, and finger malformations. Case presentation WebDisease or Syndrome. Shohat-type spondyloepimetaphyseal dysplasia (SEMDSH) is a chondrodysplasia characterized by vertebral, epiphyseal, and metaphyseal … WebRoentgenologic findings include short long bones, wide and flared metaphyses with irregularities, delayed epiphyseal ossification, platyspondyly and morphological changes [ncbi.nlm.nih.gov] We present a 3.5-year-old Mexican boy with disproportionate short stature, peculiar face, short neck, small chest, abdominal distension, lumbar lordosis ... greenacre law firm